LP35854-6
BBS1 gene
Active
Description
The BBS1 gene (Bardet-Biedl syndrome 1) [HGNC Gene ID:966] is located on chromosome 11q13. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008] [NCBI Gene ID:582] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Display Name
- BBS1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2005-07-11
- Construct for LOINC Short Name
- BBS1 gene
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP35854-6 - ConceptMap translate
- https:
//fhir.loinc.org/ConceptMap/$translate?system=http: //loinc.org&code=LP35854-6
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | BBS1 基因 Synonyms: Bardet-Biedl 综合征 1; |
| et-EE | Estonian (Estonia) | BBS1 geen |
| es-ES | Spanish (Spain) | Gen BBS1 |
| it-IT | Italian (Italy) | BBS1, gene Synonyms: Gene BBS1 |
| tr-TR | Turkish (Turkey) | BBS1 geni |
| ru-RU | Russian (Russian Federation) | BBS1 ген |
| nl-NL | Dutch (Netherlands) | BBS1-gen Synonyms: BBS1 gen |
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